MCID: MCR367
MIFTS: 13

Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome

Categories: Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

MalaCards integrated aliases for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome:

Name: Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

MalaCards based summary : Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome An important gene associated with Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome is ADAMTSL1 (ADAMTS Like 1). Affiliated tissues include kidney and thyroid, and related phenotypes are macrotia and mandibular prognathia

Related Diseases for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Symptoms & Phenotypes for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Human phenotypes related to Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
2 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
3 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
4 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
5 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
6 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
7 retinal detachment 58 31 frequent (33%) Frequent (79-30%) HP:0000541
8 buphthalmos 58 31 frequent (33%) Frequent (79-30%) HP:0000557
9 nephrolithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0000787
10 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
11 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
12 tented upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010804
13 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
14 prominent metopic ridge 58 31 frequent (33%) Frequent (79-30%) HP:0005487
15 thyroid hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0005990
16 congenital hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0000851
17 bilateral sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008619
18 rieger anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000558
19 delayed eruption of permanent teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000696
20 delayed myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012448
21 square face 58 31 frequent (33%) Frequent (79-30%) HP:0000321
22 calcaneovalgus deformity 58 31 frequent (33%) Frequent (79-30%) HP:0001848
23 primary congenital glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0008007
24 abnormality of the palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0010490
25 vertebrobasilar dolichoectasia 58 31 frequent (33%) Frequent (79-30%) HP:0020038
26 abnormality of the kidney 58 Frequent (79-30%)
27 long fingers 58 Frequent (79-30%)

Drugs & Therapeutics for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Search Clinical Trials , NIH Clinical Center for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome

Genetic Tests for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Anatomical Context for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

MalaCards organs/tissues related to Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome:

40
Kidney, Thyroid

Publications for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Variations for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Expression for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Search GEO for disease gene expression data for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome.

Pathways for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

GO Terms for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Sources for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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